Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03091:Pou5f1'

418385

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pou5f1

Ensembl Gene

ENSMUSG00000024406

Gene Name

POU domain, class 5, transcription factor 1

Synonyms

Otf3-rs7, Otf3, Otf4, Otf-3, Oct-3/4, Oct-3, Otf-4, Oct3/4, Oct-4, Otf3g, Oct4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03091

Quality Score

Status

Chromosome

Chromosomal Location

35816929-35821674 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35820939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 127 (R127L)

Ref Sequence

ENSEMBL: ENSMUSP00000134493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025271] [ENSMUST00000159009] [ENSMUST00000160885] [ENSMUST00000161012] [ENSMUST00000162683] [ENSMUST00000172651] [ENSMUST00000173256] [ENSMUST00000174782] [ENSMUST00000173934] [ENSMUST00000173805]

AlphaFold

P20263

Predicted Effect

probably benign
Transcript: ENSMUST00000025271
AA Change: R233L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000025271
Gene: ENSMUSG00000024406
AA Change: R233L

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	39	49	N/A	INTRINSIC
low complexity region	72	85	N/A	INTRINSIC
POU	131	205	2.88e-47	SMART
HOX	223	285	4.75e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159009

SMART Domains

Protein: ENSMUSP00000124449
Gene: ENSMUSG00000050410

Domain	Start	End	E-Value	Type
low complexity region	11	16	N/A	INTRINSIC
FHA	30	88	8.28e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160885

SMART Domains

Protein: ENSMUSP00000125167
Gene: ENSMUSG00000050410

Domain	Start	End	E-Value	Type
low complexity region	11	16	N/A	INTRINSIC
FHA	30	88	8.28e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161012

SMART Domains

Protein: ENSMUSP00000125310
Gene: ENSMUSG00000050410

Domain	Start	End	E-Value	Type
low complexity region	11	16	N/A	INTRINSIC
FHA	30	88	8.28e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162683

SMART Domains

Protein: ENSMUSP00000125659
Gene: ENSMUSG00000050410

Domain	Start	End	E-Value	Type
low complexity region	11	16	N/A	INTRINSIC
FHA	30	88	8.28e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172651
AA Change: R102L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000134654
Gene: ENSMUSG00000024406
AA Change: R102L

Domain	Start	End	E-Value	Type
POU	1	74	1.3e-45	SMART
Pfam:Homeobox	93	132	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173256
AA Change: R102L

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134060
Gene: ENSMUSG00000024406
AA Change: R102L

Domain	Start	End	E-Value	Type
POU	1	74	1.3e-45	SMART
Pfam:Homeobox	93	132	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174782
AA Change: R127L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134493
Gene: ENSMUSG00000024406
AA Change: R127L

Domain	Start	End	E-Value	Type
POU	25	99	2.88e-47	SMART
Pfam:Homeobox	118	157	1.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173934
AA Change: R102L

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134729
Gene: ENSMUSG00000024406
AA Change: R102L

Domain	Start	End	E-Value	Type
POU	1	74	1.3e-45	SMART
Pfam:Homeobox	93	132	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173805
AA Change: R102L

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133633
Gene: ENSMUSG00000024406
AA Change: R102L

Domain	Start	End	E-Value	Type
POU	1	74	1.3e-45	SMART
Pfam:Homeobox	93	132	1.2e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175723

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene belongs to the POU domain family of transcription factors. POU domain transcription factors bind to a specific octamer DNA motif and regulate cell type-specific differentiation pathways. The encoded protein plays a key role in embryonic development and stem cell pluripotency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygosity for a targeted null mutation results in peri-implantation lethality prior to the egg cylinder stage, associated with failure to develop a pluripotent inner cell mass. Conditional mutations show defects in reproduction. [provided by MGI curators]

Allele List at MGI

All alleles(86) : Targeted(7) Gene trapped(79)

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	A	T	4: 126,352,982 (GRCm39)	Y314N	probably damaging	Het
Aknad1	A	G	3: 108,659,219 (GRCm39)	T78A	possibly damaging	Het
Arhgap33	G	A	7: 30,227,718 (GRCm39)	P494S	probably damaging	Het
Babam2	T	A	5: 31,943,022 (GRCm39)		probably null	Het
Ces2g	T	C	8: 105,691,386 (GRCm39)	V174A	probably damaging	Het
Chd1l	G	A	3: 97,470,863 (GRCm39)	R811C	probably damaging	Het
Crot	A	T	5: 9,016,897 (GRCm39)	H598Q	probably benign	Het
Dtx2	C	T	5: 136,041,228 (GRCm39)	S211L	probably damaging	Het
Duox2	T	G	2: 122,119,955 (GRCm39)	M852L	probably benign	Het
Fmc1	G	T	6: 38,516,170 (GRCm39)	S72I	probably damaging	Het
Fut1	T	C	7: 45,268,951 (GRCm39)	C302R	probably damaging	Het
Gm6401	T	C	14: 41,786,615 (GRCm39)	T184A	possibly damaging	Het
Gsdma2	C	T	11: 98,542,828 (GRCm39)	T29I	probably damaging	Het
Lgi2	C	A	5: 52,721,307 (GRCm39)		probably null	Het
Lipe	A	G	7: 25,080,180 (GRCm39)	L926P	probably damaging	Het
Lrp1	T	A	10: 127,394,993 (GRCm39)	I2511F	probably benign	Het
Med10	T	C	13: 69,963,816 (GRCm39)		probably benign	Het
Nbea	A	G	3: 55,992,725 (GRCm39)	S294P	probably damaging	Het
Neb	T	A	2: 52,161,324 (GRCm39)	H2156L	probably benign	Het
Neo1	A	T	9: 58,885,951 (GRCm39)	N335K	probably damaging	Het
Nox3	G	T	17: 3,716,119 (GRCm39)	Q429K	probably benign	Het
Odad4	T	A	11: 100,441,076 (GRCm39)	Y102*	probably null	Het
Pkd1l1	T	C	11: 8,805,564 (GRCm39)	R1671G	probably damaging	Het
Plec	T	C	15: 76,073,503 (GRCm39)	T504A	possibly damaging	Het
Prkdc	T	A	16: 15,523,174 (GRCm39)		probably benign	Het
Rassf8	T	A	6: 145,761,536 (GRCm39)	N287K	probably benign	Het
Rdh16	T	C	10: 127,649,502 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,782,911 (GRCm39)	A1901V	possibly damaging	Het
Scnn1g	A	G	7: 121,345,906 (GRCm39)	Y343C	probably damaging	Het
Sema5a	A	G	15: 32,538,880 (GRCm39)		probably benign	Het
Slc9b2	G	A	3: 135,034,791 (GRCm39)	V310M	probably damaging	Het
Stox2	T	A	8: 47,646,222 (GRCm39)	I477F	possibly damaging	Het
Terb1	A	T	8: 105,195,786 (GRCm39)	H548Q	probably benign	Het
Tsks	G	A	7: 44,607,319 (GRCm39)	M547I	possibly damaging	Het
Tuba8	G	A	6: 121,197,403 (GRCm39)	E22K	probably damaging	Het
Wee2	T	C	6: 40,438,968 (GRCm39)	F364L	probably benign	Het
Zfp644	A	G	5: 106,784,724 (GRCm39)	Y608H	probably damaging	Het

Other mutations in Pou5f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02744:Pou5f1	APN	17	35,820,311 (GRCm39)	missense	probably damaging	1.00
IGL03062:Pou5f1	APN	17	35,820,936 (GRCm39)	missense	possibly damaging	0.86
R0553:Pou5f1	UTSW	17	35,820,374 (GRCm39)	missense	possibly damaging	0.76
R2105:Pou5f1	UTSW	17	35,820,899 (GRCm39)	missense	probably benign	0.01
R2231:Pou5f1	UTSW	17	35,820,959 (GRCm39)	missense	probably benign
R4691:Pou5f1	UTSW	17	35,817,028 (GRCm39)	missense	probably damaging	0.98
R4953:Pou5f1	UTSW	17	35,821,438 (GRCm39)	missense	possibly damaging	0.54
R6208:Pou5f1	UTSW	17	35,821,357 (GRCm39)	missense	possibly damaging	0.50
R8171:Pou5f1	UTSW	17	35,820,933 (GRCm39)	missense	probably benign	0.26
R8914:Pou5f1	UTSW	17	35,821,371 (GRCm39)	missense	probably benign	0.00
R8957:Pou5f1	UTSW	17	35,821,366 (GRCm39)	missense	possibly damaging	0.86
R9122:Pou5f1	UTSW	17	35,819,953 (GRCm39)	missense	probably benign	0.00
R9632:Pou5f1	UTSW	17	35,819,731 (GRCm39)	start gained	probably benign
X0027:Pou5f1	UTSW	17	35,817,343 (GRCm39)	missense	probably benign

Posted On

2016-08-02